Listar por autor "Gaitán Peñas, Héctor"
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Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients
Vindas Smith, Rebeca; Fiore, Michele; Vásquez Cerdas, Melissa; Cuenca Berger, Patricia; del Valle Carazo, Gerardo; Lagostena, Laura; Gaitán Peñas, Héctor; Estevez Povedano, Raúl; Push, Michael; Morales Montero, Fernando (2016)Mutations in the gene coding for the skeletal muscle Cl− channel (CLCN1) lead to dominant or recessive myotonia. Here, we identified and characterized CLCN1 mutations in Costa Rican patients, who had been clinically diagnosed ... -
Reduced current density and surface expression of a CLCN1 mutation causing dominant or recessive myotonia in Costa Rica
Fiore, Michele; Estevez Povedano, Raúl; Gaitán Peñas, Héctor; Espinoza Arias, Mauricio; Vásquez Cerdas, Melissa; Vindas Smith, Rebeca; Pusch, Michael; Morales Montero, Fernando (2014)Mutations in CLCN1 coding for the muscle ClC-1 Cl- channel lead to dominant (Thomsen's disease) of recessive (Becker's disease) myotonia. Here we characterized several CLCN1 mutations identified in Costa Rica myotonia ...